Wilson's Disease

Introduction

Wilson's disease is an inherited inborn error of metabolism in which the body cannot process copper.

What is going on in the body?

Wilson's disease is caused by a defect in an enzyme, or special protein. This enzyme normally helps the body get rid of extra copper. The amount of copper in a normal diet is more than the body needs. In people with Wilson's disease, the extra copper cannot be excreted from the body. The copper can damage the liver, brain, kidney, cornea, and other organs.

What are the causes and risks of the disease?

Wilson's disease is an inherited disorder. The children of parents who carry the gene for the disorder are at risk. The liver disease usually starts between ages 8 and 12, while the brain symptoms occur later in life.

What are the signs and symptoms of the disease?

Wilson's disease may cause:

anemia, or low red blood cell counts

ataxia, or lack of coordination

jaundice, or yellow eyes and skin

kidney problems, which are usually minor

loss of appetite

psychiatric problems, such as anxiety, depression, personality changes, and psychosis

slurred speech or inability to form words

tremors, or involuntary rhythmic movements

weakness and a general discomfort    

How is the disease diagnosed?

Diagnosis of Wilson's disease begins with a medical history and physical exam. Usually there are high levels of copper in the urine. Often the level of a special protein in the blood is lower than normal. A liver biopsy involves taking a small piece of liver with a special needle put through the skin. The piece can then be examined under a microscope for excess copper.

What are the treatments for the disease?

Treatment is started right after the diagnosis is made, even if there are no symptoms. It continues for the rest of the person's life. If treatment is stopped, the symptoms return. Treatment includes avoiding foods rich in copper. Examples of such foods are dried beans, peas, whole wheat, chocolate, and organ meats.
Medicines are also needed. Penicillamine is usually used to treat Wilson's disease. It binds copper and allows it to be excreted in the urine. Pyridoxine, a component of vitamin B6, is also given. Other medicines such as trientine dihydrochloride and zinc may be used in some cases.
In rare cases, Wilson's disease may cause rapid, severe liver damage. The only option in such cases is a liver transplant.

What are the side effects of the treatments?

All medicines have side effects, such as allergic reactions or stomach upset. Penicillamine may cause a rash, low blood cell counts, or joint pains.

What happens after treatment for the disease?

Someone with Wilson's disease will need lifelong treatment.




Reference
Wilson Disease Association
American Liver Foundation.